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A 50-year-old member asked:

Is alpha thalassemia trait the same thing as alpha thalassemia?

2 doctor answers3 doctors weighed in
Dr. Robert Kwok
Pediatrics 34 years experience
Not quite: Normal people have 4 Alpha globulin genes. Mutations in 1, 2, 3, or all 4 of the genes cause the 4 levels of Alpha thalassemia. One mutation = silent carrier (no symptoms), 2 mutat. = Alpha trait (mild anemia), 3 mutat. = HGB h disease (anemia sometimes needing transfusions), 4 mutat. = bart's disease (fatal before birth in almost all cases; lifelong transfusions needed to survive if born alive).
Created for people with ongoing healthcare needs but benefits everyone.
Dr. Michael Engel
Pediatric Hematology and Oncology 21 years experience
Thalassemia vs trait: Thalassemia is a deficiency in production of one of the globin chains. There are many variants that manifest a wide severity of symptoms from none to transfusion dependence. In the case of Alpha thal, the term is a catch all for all symptomatic variants of the disorder. Alpha that trait specifically refers to a two gene deletion, in either cis (same chromosome) or trans (different chromosomes).
Created for people with ongoing healthcare needs but benefits everyone.
Last updated Jun 24, 2014
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